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Case Reports
. 2021 Mar;9(3):e1605.
doi: 10.1002/mgg3.1605. Epub 2021 Feb 4.

A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication

Xiuzhu Huang  1   2 , Jieping Chen  2 , Wenlong Hu  2 , Lu Li  1   2 , Huiyan He  2 , Hui Guo  2 , Qiuyan Liao  2 , Mei Ye  2 , Donge Tang  2 , Yong Dai  2
Affiliations
Case Reports

A report on seven fetal cases associated with 15q11-q13 microdeletion and microduplication

Xiuzhu Huang et al. Mol Genet Genomic Med. 2021 Mar.

Abstract

Background: The 15q11-q13 region contains three breakpoints (BP1 to BP3), and copy number variations often occur in the region.

Aims: 15q11-q13 microdeletion and microduplication are usually associated with Prader-Willi and Angelman syndromes, respectively. It is not yet clear to what extent microdeletion and microduplication affect the physical health of the fetus and the child. In this study, we examined seven fetuses ranging in gestational age from 15 to 27 weeks.

Materials & methods: Detailed prenatal screening and laboratory examinations were performed, while karyotype analysis and chromosomal microarray analysis (CMA) of the amniotic fluid and umbilical cord blood were applied for genetic analysis.

Results: CMA analysis showed that four fetuses harbored a microdeletion and one fetus showed a microduplication at 15q11.2 BP1-BP2, two fetuses had a microdeletion at 15q11-q13 BP2-BP3, and one fetus had an additional microdeletion at 16p13.11.

Discussion: There is no clear standard for the clinical diagnosis of 15q11-q13 microdeletion and microduplication, some of them have clinical phenotypes or are clinically affected.

Conclusion: Therefore, parents of such fetuses should be informed of the possibility of microdeletions or microduplications to mitigate the psychological burden, and medical consultation and assistance should be provided when communicating the results of the mid-gestation screening.

Keywords: 15q11-q13; Angelman syndrome; Prader-Willi syndrome; microdeletion; microduplication.

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Conflict of interest statement

The author solemnly states that there is no conflict of interest to be disclosed.

Figures

FIGURE 1
FIGURE 1
Schematic maps of human chromosome 15q11‐q13. Green and pink represent paternally and maternally expressed imprinted genes, respectively; black indicates biallelic, nonimprinted genes; and squares are Morbid genes. BP1‐BP3 is shown with locations of the microdeletion and microduplication reported here. Our fetal microdeletion is depicted in blue, and our fetal microduplication is shown in red
FIGURE 2
FIGURE 2
UCSC Genome Browser view of 15q11.2. The top panel shows the microdeletion (blue) and microduplication (red) reported here. UCSC genes, OMIM genes and Database of Genomic Variants (DGV) cases are shown below the custom track
FIGURE 3
FIGURE 3
UCSC Genome Browser view of 15q11‐q13. The top panel shows the microdeletion reported here. UCSC genes, OMIM genes and Database of Genomic Variants (DGV) cases are shown below the custom track
See this image and copyright information in PMC

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